The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.
Warburg
M
M
Department of Ophthalmology, University Hospital, Gentofte, Denmark.
Tommerup
N
N
Vestermark
S
S
Parving
A
A
Weismann
K
K
Russell
B
B
Thomsen
H K
HK
D000015:Abnormalities, Multiple / Q000235:genetics; D001766:Blindness / Q000150:complications* / Q000235:genetics; D002648:Child; D003103:Coloboma / Q000150:complications / Q000235:genetics; D003582:Cytogenetics; D003638:Deafness / Q000150:complications* / Q000151:congenital / Q000235:genetics; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure; D008850:Microphthalmos / Q000150:complications / Q000235:genetics; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome; D014792:Visual Acuity; D015006:Yemen